COFS2
MCID: CRB098
MIFTS: 30

Cerebrooculofacioskeletal Syndrome 2 (COFS2)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Cerebrooculofacioskeletal Syndrome 2

MalaCards integrated aliases for Cerebrooculofacioskeletal Syndrome 2:

Name: Cerebrooculofacioskeletal Syndrome 2 56 29 13 6 71
Cofs2 56 73
Cerebro-Oculo-Facio-Skeletal Syndrome 2 73
Cofs Syndrome 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
death in early childhood
based on report of 1 ashkenazi jewish boy (last curated july 2017)


HPO:

31
cerebrooculofacioskeletal syndrome 2:
Clinical modifier death in infancy death in childhood
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cerebrooculofacioskeletal Syndrome 2

UniProtKB/Swiss-Prot : 73 Cerebro-oculo-facio-skeletal syndrome 2: A disorder of prenatal onset characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. COFS is considered to be part of the nucleotide-excision repair disorders spectrum that include also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome.

MalaCards based summary : Cerebrooculofacioskeletal Syndrome 2, also known as cofs2, is related to cerebro-oculo-facio-skeletal syndrome and cerebrooculofacioskeletal syndrome 1. An important gene associated with Cerebrooculofacioskeletal Syndrome 2 is ERCC2 (ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit). Affiliated tissues include eye, and related phenotypes are hearing impairment and cataract

More information from OMIM: 610756 PS214150

Related Diseases for Cerebrooculofacioskeletal Syndrome 2

Graphical network of the top 20 diseases related to Cerebrooculofacioskeletal Syndrome 2:



Diseases related to Cerebrooculofacioskeletal Syndrome 2

Symptoms & Phenotypes for Cerebrooculofacioskeletal Syndrome 2

Human phenotypes related to Cerebrooculofacioskeletal Syndrome 2:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 HP:0000365
2 cataract 31 HP:0000518
3 global developmental delay 31 HP:0001263
4 micrognathia 31 HP:0000347
5 intrauterine growth retardation 31 HP:0001511
6 microcephaly 31 HP:0000252
7 cutaneous photosensitivity 31 HP:0000992
8 kyphoscoliosis 31 HP:0002751
9 microphthalmia 31 HP:0000568
10 deeply set eye 31 HP:0000490
11 micropenis 31 HP:0000054
12 rocker bottom foot 31 HP:0001838
13 developmental cataract 31 HP:0000519
14 convex nasal ridge 31 HP:0000444
15 camptodactyly of finger 31 HP:0100490
16 sparse hair 31 HP:0008070
17 scrotal hypoplasia 31 HP:0000046
18 small for gestational age 31 HP:0001518
19 large beaked nose 31 HP:0003683

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Mouth:
micrognathia

Genitourinary External Genitalia Male:
micropenis
scrotal hypoplasia

Head And Neck Nose:
beaked nose

Neurologic Central Nervous System:
developmental delay, severe

Skeletal Limbs:
joint contractures

Growth Height:
short birth length (39.5 cm)

Growth Other:
intrauterine growth deficiency, severe

Respiratory:
respiratory difficulties secondary to neurodegenerative disease

Head And Neck Head:
microcephaly

Skin Nails Hair Hair:
sparse hair

Head And Neck Eyes:
deep-set eyes
congenital cataracts, bilateral

Skeletal Hands:
finger contractures

Skeletal Feet:
rocker-bottom feet

Growth Weight:
low birth weight (1.5 kg)

Head And Neck Ears:
hearing impairment, profound

Skin Nails Hair Skin:
sunburned appearance

Clinical features from OMIM:

610756

Drugs & Therapeutics for Cerebrooculofacioskeletal Syndrome 2

Search Clinical Trials , NIH Clinical Center for Cerebrooculofacioskeletal Syndrome 2

Genetic Tests for Cerebrooculofacioskeletal Syndrome 2

Genetic tests related to Cerebrooculofacioskeletal Syndrome 2:

# Genetic test Affiliating Genes
1 Cerebrooculofacioskeletal Syndrome 2 29 ERCC2

Anatomical Context for Cerebrooculofacioskeletal Syndrome 2

MalaCards organs/tissues related to Cerebrooculofacioskeletal Syndrome 2:

40
Eye

Publications for Cerebrooculofacioskeletal Syndrome 2

Articles related to Cerebrooculofacioskeletal Syndrome 2:

(show all 37)
# Title Authors PMID Year
1
Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy. 61 56 6
11443545 2001
2
Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene. 6
9238033 1997
3
Oxidative and energy metabolism as potential clues for clinical heterogeneity in nucleotide excision repair disorders. 61
25296907 2015
4
Cell-autonomous progeroid changes in conditional mouse models for repair endonuclease XPG deficiency. 61
25299392 2014
5
Dermatologic findings in 16 patients with Cockayne syndrome and cerebro-oculo-facial-skeletal syndrome. 61
24154677 2013
6
Cockayne syndrome: the expanding clinical and mutational spectrum. 61
23428416 2013
7
Disease-causing missense mutations in human DNA helicase disorders. 61
23276657 2013
8
DNA helicases associated with genetic instability, cancer, and aging. 61
23161009 2013
9
ERCC6 founder mutation identified in Finnish patients with COFS syndrome. 61
20456449 2010
10
Cerebro-oculo-facio-skeletal syndrome. 61
20687508 2010
11
Magnetic resonance imaging of the fetal central nervous system in Singapore. 61
19816636 2009
12
Café au lait macules and cerebro-oculo-facio-skeletal syndrome: a novel association. 61
19250421 2009
13
Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation. 61
18628313 2008
14
Cerebro-oculo-facio-skeletal (COFS) syndrome in siblings. 61
15630331 2004
15
MICRO syndrome: an entity distinct from COFS syndrome. 61
15216543 2004
16
Cerebro-oculo-facio-skeletal syndrome: report of two cases from Turkey with postmortem findings. 61
12405446 2002
17
Cerebro-oculo-facio-skeletal syndrome as a human example for accelerated cochlear nerve degeneration. 61
11300264 2001
18
[Cerebro-oculo-facio-skeletal (COFS) syndrome]. 61
11462474 2001
19
Cockayne Syndrome 61
20301516 2000
20
Prenatal diagnosis of the cerebro-oculo-facio-skeletal (COFS) syndrome. 61
11084975 2000
21
Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene. 61
10739753 2000
22
[Cerebro-oculo-facio-skeletal (COFS) syndrome]. 61
11057139 2000
23
Microcephaly, microphthalmia, congenital cataract, with calcification of the basal ganglia: MCA/MR syndrome. 61
11140418 2000
24
Neuropathological findings in eight children with cerebro-oculo-facio-skeletal (COFS) syndrome. 61
9329459 1997
25
Restrictive dermopathy: report and review. 61
9217218 1997
26
COFS syndrome with familial 1;16 translocation. 61
9001808 1996
27
Xeroderma pigmentosum--Cockayne syndrome complex: a further case. 61
8818951 1996
28
[Bilateral vocal cord paralysis in children]. 61
8822258 1996
29
Cerebro-oculo-facio-skeletal syndrome: further delineation. 61
1951466 1991
30
Infantile spasms in COFS syndrome. 61
1930425 1991
31
Cerebro-oculo-facio-skeletal (COFS) syndrome. The variability of presenting symptoms as a manifestation of two subtypes? 61
1741976 1991
32
Early onset Cockayne's syndrome: case reports with neuropathological and fibroblast studies. 61
2468771 1989
33
Chondro-osseous changes in Cerebro-Oculo-Facial-Skeletal (COFS) syndrome. 61
7153815 1982
34
Intracranial calcifications in cerebro-oculo-facio-skeletal (COFS) syndrome. 61
7063265 1982
35
COFS syndrome revisited. 61
728562 1978
36
Further evidence for the autosomal-recessive inheritance of the COFS syndrome. 61
825334 1976
37
Autosomal recessive cerebro-oculo-facio-skeletal (COFS) syndrome. 61
4211825 1974

Variations for Cerebrooculofacioskeletal Syndrome 2

ClinVar genetic disease variations for Cerebrooculofacioskeletal Syndrome 2:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ERCC2 NM_000400.3(ERCC2):c.2041G>A (p.Asp681Asn)SNV Pathogenic 16787 rs121913023 19:45855769-45855769 19:45352511-45352511
2 ERCC2 NM_000400.3(ERCC2):c.1846C>T (p.Arg616Trp)SNV Pathogenic 16788 rs121913024 19:45856060-45856060 19:45352802-45352802
3 ERCC2 NM_000400.3(ERCC2):c.2164C>T (p.Arg722Trp)SNV Pathogenic 16792 rs121913026 19:45855493-45855493 19:45352235-45352235
4 ERCC2 NM_000400.3(ERCC2):c.1847G>C (p.Arg616Pro)SNV Pathogenic 329508 rs376556895 19:45856059-45856059 19:45352801-45352801
5 ERCC2 NM_000400.3(ERCC2):c.2047C>T (p.Arg683Trp)SNV Pathogenic/Likely pathogenic 16793 rs41556519 19:45855610-45855610 19:45352352-45352352
6 ERCC2 NM_000400.3(ERCC2):c.2092C>T (p.Gln698Ter)SNV Likely pathogenic 559886 rs1555775416 19:45855565-45855565 19:45352307-45352307
7 ERCC2 NM_000400.3(ERCC2):c.1887G>C (p.Gln629His)SNV Uncertain significance 134099 rs200665173 19:45856019-45856019 19:45352761-45352761

UniProtKB/Swiss-Prot genetic disease variations for Cerebrooculofacioskeletal Syndrome 2:

73
# Symbol AA change Variation ID SNP ID
1 ERCC2 p.Arg616Trp VAR_008193 rs121913024
2 ERCC2 p.Asp681Asn VAR_017293 rs121913023

Expression for Cerebrooculofacioskeletal Syndrome 2

Search GEO for disease gene expression data for Cerebrooculofacioskeletal Syndrome 2.

Pathways for Cerebrooculofacioskeletal Syndrome 2

GO Terms for Cerebrooculofacioskeletal Syndrome 2

Sources for Cerebrooculofacioskeletal Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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28 GO
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30 HMDB
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57 OMIM via Orphanet
61 PubMed
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68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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